Variant (rsID / SNP)
rs74354654
rs74354654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,600,748. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CNTNAP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:147600748
- Cytoband
- 7q35
- HGVS
- NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)
- Allele change
- Synonymous_C730C
Associated conditions / phenotypes
Pitt-Hopkins-like syndrome|Cortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.